Will whole-genome sequencing become the first-line genetic analysis for male infertility in the near future?

Ghieh, Farah; Barbotin, Anne‐Laure; Leroy, Clara; Marcelli, F.; Swierkowsky-Blanchard, Nelly; Sérazin, Valérie; Mandon‐Pepin, Béatrice; Vialard, François

doi:10.1186/s12610-021-00138-4

Cited by 11 publications

(4 citation statements)

References 29 publications

(29 reference statements)

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“…The exome, which represents 1% of the human genome, consists of 180,000 exons [ 65 ]. Currently, complex whole exome sequencing represents the diagnostic tool of choice, but it is believed that whole exome sequencing (WES) will be replaced by whole genome sequencing (WGS), which has a lower cost and incorporates practical software facilitating the interpretation of results [ 66 ]. Practically, this has helped in the understanding of several male infertility states; for instance, several genes have been identified in the context of non-obstructive azoospermia (NOA), including FANCA, PLK4, WKN3, MEI1, ADAD2, and TEX11 [ 66 67 ].…”

Section: Male Infertility Diagnosticsmentioning

confidence: 99%

Male Infertility: New Developments, Current Challenges, and Future Directions

Gül,

Russo,

Kandil

et al. 2024

World J Mens Health

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There have been many significant scientific advances in the diagnostics and treatment modalities in the field of male infertility in recent decades. Examples of these include assisted reproductive technologies, sperm selection techniques for intracytoplasmic sperm injection, surgical procedures for sperm retrieval, and novel tests of sperm function. However, there is certainly a need for new developments in this field. In this review, we discuss advances in the management of male infertility, such as seminal oxidative stress testing, sperm DNA fragmentation testing, genetic and epigenetic tests, genetic manipulations, artificial intelligence, personalized medicine, and telemedicine. The role of the reproductive urologist will continue to expand in future years to address different topzics related to diverse questions and controversies of pathophysiology, diagnosis, and therapy of male infertility, training researchers and physicians in medical and scientific research in reproductive urology/andrology, and further development of andrology as an independent specialty.

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Section: Male Infertility Diagnosticsmentioning

confidence: 99%

Male Infertility: New Developments, Current Challenges, and Future Directions

Gül,

Russo,

Kandil

et al. 2024

World J Mens Health

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“…На сьогодні проблема безпліддя постає особливо гостро та стосується рівною мірою і жінок, і чоловіків [4,5]. Тому важливо поєднувати медичні, технологічні, правові та організаційно-адміністративні знання (тобто застосовувати комплементарну взаємодію методологічного інструментарію) для комплексного розкриття проблеми репродуктивної діяльності людини, що проявляється в реальних правовідносинах.…”

Section: вступunclassified

Legal relations in the field of human reproductive activity

Blikhar

Zharovska

Shandra

et al. 2022

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The article presents a comprehensive analysis of legal relations in the field of human reproductive activity by studying international and national legal regulation and changes in legal standards caused by the coronavirus crisis. Genesis of the legal regulation of human rights to reproduction has been studied and axiological and value determinants of legal relations in the field of reproductive activity have been determined. Current international standards are positioned as legal standards that affect the ability to determine the number of children, the intervals between their births, the provision of reproductive and sexual health, as well as the relationship regarding the preservation of their own genetic material. It is motivated that international norms establish the autonomy of women for the right to perform abortion in particular and the right to individual determination of human reproductive function in general. In particular, it is substantiated that despite considerable scientific advances, especially in the molecular sphere, reproductive activity as a system requires multidimensional study, including its spatial and temporal definition. In addition, issues related to research in the field of stem cell biology, microfluidics, integration of unicellular transcriptomics, etc. are relevant today, which will help to determine the normal and healthy functioning of human reproductive function. In particular, it will allow studying external impacts and diseases, including endocrine disorders in the body and aging. The national legal norms concerning the right to abortion and other rights in this field are studied. The article is based on the materials of a survey based on author’s questionnaires conducted to determine the level of realization of their reproductive rights by Ukrainian citizens during the pandemic caused by COVID-19. It is proved that the legal policy of states on reproductive rights during pandemic threats has transformed the possibility of free exercise of reproductive law. Today there is a problem of access to reproductive procedures, in particular due to their postponement indefinitely as non-priority, due to the inaccessibility of health authorities, social distance and the ban on crossing the state border, requirement for testing.

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“…However, one of the main challenges in the infertility genetics research is the correct interpretation of these reported genetic variations because most of them are being considered as variants of unknown significance (VUS) or benign variants without any clinical significance. Therefore, the development of appropriate tools alongside the expertise of experienced specialists are crucial for the clinical practice [13]. The failure to include monogenic disorders in the diagnostic follow-up despite the growing opportunities of NGS can possibly decrease a quality of the infertility treatment.…”

Section: Introductionmentioning

confidence: 99%

Exploring the Potential of Exome Sequencing in Idiopathic Azoospermia: A Genetic Burden and Network Analysis Study

Alkšere,

Puzuka,

Lazovska

et al. 2023

Andrologia

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The purpose of this study was to investigate the linkage of the association of azoospermia phenotype with genetic alterations, involved in genome instability. Male infertility is a multifactorial pathology, and genetic alterations might be the underlying factors in majority of cases of severe male infertility. The recent emergence of next-generation sequencing offers an opportunity to analyze many genes and their interactions at once, and whole-exome sequencing (WES) together with whole-genome sequencing (WGS) was recently suggested for implementation of diagnosis workup in severe infertility cases. However, the reports on WES in conjunction with burden tests and gene network analysis are scarce or lacking in cases of severe male infertility. WES was performed on 21 nonobstructive azoospermia patients. DNA samples were sequenced using the Twist Comprehensive Exome Panel. Genetic burden test was performed with Testing Rare vAriants using Public Data. Protein interactions were investigated with ConsensusPathDB and Cytoscape. For single nucleotide variants and copy number variations (CNV) analysis, samples were analyzed with the Illumina’s BaseSpace Variant Interpreter. Genetic variant burden was found elevated in 1,473 genes out of 30,000 known testis expressed genes. Three hundred and two genes with increased loss-of-function (LoF) variant set were present in more than one sample. Overrepresentation analysis with pathway-based set of genes with high variant burden demonstrated 26 pathways. Overrepresentation analysis with protein complex-based gene sets obtained 14 sets, showing the involvement in cell proliferation and DNA repair. Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) network analysis with Cytoscape identified two clusters: (1) genes, involved in DNA binding/condensation and repair processes and (2) genes with the role in ribosome biosynthesis and gene expression processes. Increased loss of function germline variant burden and sumoylation may have critical significance in spermatogenesis. These parameters may be used for focused diagnosis in nonobstructive azoospermia patients. This may have both general significance for the decreased organism functionality but in particular is critical in spermatogenesis.

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Will whole-genome sequencing become the first-line genetic analysis for male infertility in the near future?

Cited by 11 publications

References 29 publications

Male Infertility: New Developments, Current Challenges, and Future Directions

Male Infertility: New Developments, Current Challenges, and Future Directions

Legal relations in the field of human reproductive activity

Exploring the Potential of Exome Sequencing in Idiopathic Azoospermia: A Genetic Burden and Network Analysis Study

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